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Biomedical subjects

G Kale

Publications and source records attributed to G Kale.

At least 37 records · Page 2Linked to original sources
PubMed1999

Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both.

Oral-facial digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first described by Mohr (1941). We present two sisters with Mohr syndrome from a consanguineous family. One is a three-day-old female patient, the other is 22-week-old fetus. Polydactyly with bifid thumbs in both hands, bilateral polysyndactyly of halluces, lateral polysyndactyly and bilateral pes equinovarus were demonstrated in the fetus sonographically. Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients. In addition, post-mortem findings showed absence of olfactory nerve, single atrium. VSD, abnormal lung lobulation and natal teeth in the fetus. Absence of olfactory nerve and natal teeth have not been reported previously in Mohr syndrome.

Autopsy↗
PubMed1998

Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.

The evidence of severe structural brain abnormalities in association with severe mental retardation is characteristic in congenital muscular dystrophy (CMD) forms other than the 'classical' form. However, it seems that the nosology of CMD is not complete yet, as we have clinical, immunohistochemical and genetic data suggesting that there are other unclassified forms. Here we report two CMD siblings from a consanguineous family with partial merosin-deficiency in muscle biopsies, severe mental retardation and normal MRI of the brain. The disease was not linked to the LAMA2 gene (6q22-23) or to Fukuyama congenital muscular dystrophy (FCMD) (9q31-33). To our knowledge, such an association may constitute a new entity within the broad clinical spectrum of CMD.

Brain↗
PubMed1997

Obstructive jaundice resulting from adenocarcinoma of the ampulla of Vater in an 11-year-old boy.

Adenocarcinoma of ampulla of Vater causing obstructive jaundice in an 11-year-old boy is reported. He first underwent pylorus-preserving duodenectomy, which later necessitated classical Whipple operation because of the microscopical evidence of the disease beyond surgical margins. This child is the youngest case of adenocarcinoma of ampulla of Vater in the English-language literature.

Adenocarcinoma↗
PubMed1997

Nonsyndromic paucity of interlobular bile ducts: clinical and laboratory findings of 10 cases.

BACKGROUND: Reports concerning nonsyndromic paucity of the interlobular bile ducts are not common. METHODS: The clinical, biochemical, and histological features of ten such children were described. RESULTS: All presented with jaundice, starting in the first month in seven and in the fourth, seventeenth, and thirtieth month in the others. Alcoholic stools were present intermittently in seven and persistently in three patients. Pruritus was a prominent symptom in five. Liver function tests were abnormal in all but one. Liver biopsies were performed at ages of 20 days to 3 years (median 5 months). In addition to a paucity of interlobular bile ducts, histology revealed intracellular cholestasis in all, portal fibrosis in four, and regenerative nodules in two patients. Complications of fat-soluble vitamin deficiency occurred in seven. Therapy consisted of supplementation of those vitamins and administration of cholestyramine, phenobarbital, prednisolone, or ursodeoxycholic acid. While one child had a successful orthotopic liver transplantation, three died. Consanguinity rate was 80% among the parents, and five of the patients had siblings with similar symptoms. CONCLUSIONS: Prognosis of these patients is variable. Differentiation from other forms of cholestasis is important especially to avoid surgery.

Bile Ducts↗
PubMed1997

A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.

Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal interventricular septal hypertrophy of the heart and vacuolization of myeloid series cells and distinct ultrastructural features of the skin.

Cardiomegaly↗
PubMed1996

Nonlymphoid gastrointestinal malignancies in Turkish children.

Nonlymphoid gastrointestinal malignancies are not frequently encountered malignant tumors of childhood. From 1972 to 1994, at Hacettepe University Children's Hospital, there were 6,774 malignant tumors encountered in patients from birth to age 17. Thirty-five of them (0.5%) originated from the gastrointestinal tract. There were five carcinoid tumors, four pancreas tumors (two were solid-cystic tumors), four APUD-omas, three leiomyosarcomas, one mesothelioma, two carcinomas of the stomach and duodenum, and 16 colon and rectum carcinomas (12 were mucin-producing). These rare tumors are discussed according to the characteristics of the patients, therapy modalities applied, and outcome of the patients.

Adolescent↗
PubMed1996

Splenic leiomyoma: an uncommon localization.

Muscle cell tumors are very uncommon in the spleen as they are in ataxia-telangiectasia. The increased frequency of chromosome breaks probably because of a defect in DNA repair favors the development of benign or malignant tumors in the patient. A case of leiomyoma of the spleen in an 8-year-old boy with ataxia-telangiectasia is reported. The literature on the splenic masses and the localization of leiomyoma is reviewed.

Ataxia Telangiectasia↗
PubMed1995

Acute renal failure due to acute pyelonephritis.

We report a case of acute renal failure due to acute pyelonephritis with microabscess formation. Despite antibiotic therapy renal function deteriorated, necessitating peritoneal dialysis. Although rare, acute pyelonephritis is an important consideration in the differential diagnosis of acute renal failure, and prompt antibiotic therapy is crucial to insure a favourable outcome.

Acute Disease↗
PubMed1995

Solitary intestinal fibromatosis mimicking malabsorption syndromes.

A 17-month-old baby had symptoms of malabsorption and partial intestinal obstruction. These were found to be caused by obliteration of the jejunum by solitary intestinal fibromatosis. Solitary intestinal fibromatosis, which may imitate malabsorptive diseases of the intestine, is a rare cause of intestinal obstruction in the neonatal period and infancy. Diagnostic aids and differential diagnosis of this rare disease are discussed, and previously reported cases are reviewed.

Diagnosis, Differential↗
PubMed1994

Teratoid Wilms' tumor. A unilateral case.

A unilateral teratoid Wilms' tumor in a 3-year-old girl is presented. Histopathologic features of this rare variety, differential diagnosis and effects of chemotherapy are discussed in light of other reports in the literature.

Child, Preschool↗
PubMed1994

Analysis of "pure" congenital muscular dystrophies in thirty-eight cases. How different is the classical type 1 from the occidental type cerebromuscular dystrophy?

Congenital muscular dystrophies (CMD) are heterogenous in clinical and pathologic manifestations. The "pure" classical form includes cases without severe impairment of intellectual development (Type 1), and cases with normal or subnormal IQ which show white matter hypodensity on CT scan examination. This latter group is sometimes called the "occidental type cerebro-muscular dystrophy" (OCMD). In this study we report clinical and pathologic findings in 38 cases with pure CMD. Eighteen of them were classified as Type 1 and 20 as OCMD, following the neuroradiological work-up. Statistical analysis between the two groups were done for: age range, consanguinity, multiple joint contractures, maximal motor capacity, facial involvement, high CK, endomysial fibrosis, adiposis, fiber atrophy and necrosis. CK was significantly higher in the OCMD group. Though not statistically significant, multiple joint contractures and muscle fiber necrosis were seen in more OCMD patients. These parameters denoted severity. The results of electrophysiological tests did not show any statistical differences. In pure CMDs there is evidence for overlap between the two sub-groups. OCMD cases may tend to run a more severe course in the presence of significantly higher CK levels.

Adolescent↗